Proximal symphalangism 1A
| Disorder | |
|---|---|
| OMIM #: | #185800 (Click to access OMIM database) |
| Disorder: | Proximal symphalangism 1A |
| Also known as: | SYM1 CUSHING SYMPHALANGISM HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS |
| Clinical | |
| Phenotype: | ankylosis of the proximal interphalangeal joints, carpal and tarsal synostosis, in some cases conductive deafness |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | NOG |
| Base Change: | T>A, at nucleotide 122 |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Personal communication; seen at CSC. |
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